Varaico: Literature-Extracted Genetic Variants

Gene:RPE65
Variant:p.K69E

RPE65

859 papers

RefSeq Summary

The protein encoded by this gene is a component of the vitamin A visual cycle of the retina which supplies the 11-cis retinal chromophore of the photoreceptors opsin visual pigments. It is a member of...

Pfam Domains

RPE65aa 15–532UCSCRetinal pigment epithelial membrane protein

Gene Aliases

HGNC Name

retinoid isomerohydrolase RPE65

HGNC Previous Symbol

RP20

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_000329.3
p.K69E
c.205A>G
Surrounding Variants
1 paper
NM_000329.3
p.H68delFs
c.203delT
2 papers
NM_000329.3
p.K69N
c.207G>T
3 papers
NM_000329.3
p.K69N
c.207G>C
3 papers
NM_000329.3
p.H68P
c.203A>C
10 papers
NM_000329.3
p.F70V
c.208T>G
21 papers
NM_000329.3
p.H68Y
c.202C>T
1 paper
NM_000329.3
p.L67_H68delins
c.201_202delinsTT
5 papers
NM_000329.3
p.F70S
c.209T>C
22 papers
NM_000329.3
p.L67R
c.200T>G
3 papers
NM_000329.3
p.L67Q
c.200T>A
1 paper
NM_000329.3
p.F70delFs
c.209delA
1 paper
NM_000329.3
p.A65delFs
c.194delG
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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."